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Global proximal tubulopathy

MedGen UID:
868445
Concept ID:
C4022839
Disease or Syndrome
HPO: HP:0012573

Definition

A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Global proximal tubulopathy

Recent clinical studies

Etiology

Mugwanya K, Baeten J, Celum C, Donnell D, Nickolas T, Mugo N, Branch A, Tappero J, Kiarie J, Ronald A, Yin M, Wyatt C; Partners PrEP Study Team
J Infect Dis 2016 Oct 1;214(7):1050-7. Epub 2016 Mar 29 doi: 10.1093/infdis/jiw125. PMID: 27029778Free PMC Article
Vrouenraets SM, Fux CA, Wit FW, Garcia EF, Furrer H, Brinkman K, Hoek FJ, Abeling NG, Krediet RT, Reiss P; Prepare Study Group
AIDS 2011 Nov 13;25(17):2149-55. doi: 10.1097/QAD.0b013e32834bba87. PMID: 21857491

Diagnosis

Hinden L, Tam J
Nephron 2019;143(1):24-27. Epub 2019 Jan 11 doi: 10.1159/000494512. PMID: 30636250
Valina MR, Larsen CP, Kanosky S, Suchy SF, Nield LS, Onder AM
Clin Nephrol 2013 Nov;80(5):377-84. doi: 10.5414/CN107429. PMID: 22735364
Frishberg Y, Dinour D, Belostotsky R, Becker-Cohen R, Rinat C, Feinstein S, Navon-Elkan P, Ben-Shalom E
Pediatr Nephrol 2009 Dec;24(12):2369-73. doi: 10.1007/s00467-009-1299-2. PMID: 19806368

Therapy

Hinden L, Tam J
Nephron 2019;143(1):24-27. Epub 2019 Jan 11 doi: 10.1159/000494512. PMID: 30636250
Mugwanya K, Baeten J, Celum C, Donnell D, Nickolas T, Mugo N, Branch A, Tappero J, Kiarie J, Ronald A, Yin M, Wyatt C; Partners PrEP Study Team
J Infect Dis 2016 Oct 1;214(7):1050-7. Epub 2016 Mar 29 doi: 10.1093/infdis/jiw125. PMID: 27029778Free PMC Article
Wohl D, Oka S, Clumeck N, Clarke A, Brinson C, Stephens J, Tashima K, Arribas JR, Rashbaum B, Cheret A, Brunetta J, Mussini C, Tebas P, Sax PE, Cheng A, Zhong L, Callebaut C, Das M, Fordyce M; GS-US-2,92-01040111 and Study Team
J Acquir Immune Defic Syndr 2016 May 1;72(1):58-64. doi: 10.1097/QAI.0000000000000940. PMID: 26829661
Vrouenraets SM, Fux CA, Wit FW, Garcia EF, Furrer H, Brinkman K, Hoek FJ, Abeling NG, Krediet RT, Reiss P; Prepare Study Group
AIDS 2011 Nov 13;25(17):2149-55. doi: 10.1097/QAD.0b013e32834bba87. PMID: 21857491

Prognosis

Mugwanya K, Baeten J, Celum C, Donnell D, Nickolas T, Mugo N, Branch A, Tappero J, Kiarie J, Ronald A, Yin M, Wyatt C; Partners PrEP Study Team
J Infect Dis 2016 Oct 1;214(7):1050-7. Epub 2016 Mar 29 doi: 10.1093/infdis/jiw125. PMID: 27029778Free PMC Article

Clinical prediction guides

Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, Wang T, Nussbaum R, De Camilli P, Ishibe S
J Am Soc Nephrol 2017 May;28(5):1399-1407. Epub 2016 Nov 28 doi: 10.1681/ASN.2016080913. PMID: 27895154Free PMC Article
Mugwanya K, Baeten J, Celum C, Donnell D, Nickolas T, Mugo N, Branch A, Tappero J, Kiarie J, Ronald A, Yin M, Wyatt C; Partners PrEP Study Team
J Infect Dis 2016 Oct 1;214(7):1050-7. Epub 2016 Mar 29 doi: 10.1093/infdis/jiw125. PMID: 27029778Free PMC Article
Vrouenraets SM, Fux CA, Wit FW, Garcia EF, Furrer H, Brinkman K, Hoek FJ, Abeling NG, Krediet RT, Reiss P; Prepare Study Group
AIDS 2011 Nov 13;25(17):2149-55. doi: 10.1097/QAD.0b013e32834bba87. PMID: 21857491

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